spinal muscular atrophy, jerash type

Preferred Label : spinal muscular atrophy, jerash type;

MeSH note : Dsma2 not included;

MeSH synonym : hereditary motor neuropathy, jerash type; motor neuropathy, distal, jerash type; neuropathy, distal hereditary motor, jerash type; neuronopathy, distal hereditary motor, jerash type; spinal muscular atrophy, distal, autosomal recessive, 2;

Details

Origin ID

C535715;

UMLS CUI

C1854023;

CISMeF manual mappings
- Distal hereditary motor neuropathy, Jerash type [ORDO Disease]
Currated CISMeF NLP mapping
- Distal hereditary motor neuropathy Jerash type (disorder) [SNOMED CT concept]
- Distal hereditary motor neuropathy, Jerash type [ICD-11 More detail]
- Spinal muscular atrophy, distal, autosomal recessive, 2 [OMIM Phenotype]
- distal spinal muscular atrophy 2 [DO Concept]
DO Cross reference
- distal spinal muscular atrophy 2 [DO Concept]
MeSH term(s) associated for indexing
- muscular atrophy, spinal [MeSH Descriptor]
Record concept(s)
- Spinal muscular atrophy, Jerash type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal hereditary motor neuropathy Jerash type (disorder) [SNOMED CT concept]
- Distal hereditary motor neuropathy, Jerash type [ORDO Disease]
- Spinal muscular atrophy, distal, autosomal recessive, 2 [OMIM Phenotype]
- distal spinal muscular atrophy 2 [DO Concept]

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